Cynthia Gagnon

Fatigue and daytime sleepiness rating scales in myotonic dystrophy : a study of reliability

Objectives: To assess the reliability of the Epworth Sleepiness Scale (ESS), Daytime Sleepiness Scale (DSS), Chalder Fatigue Scale (CFS), and Krupp’s Fatigue Severity Scale (KFSS) in patients with myotonic dystrophy type 1 (DM1). Methods: In total, 27 patients with DM1 were administered the questionnaires on two occasions, with a 2 week interval. Internal consistency and test retest reliability were measured using intraclass correlation coefficients (ICCs), and Cronbach’s α, Cohen’s κ, and Goodman-Kruskal’s γ coefficients. Results: Internal consistency of the CFS and KFSS were adequate (α>0.70) but that of the ESS was weak (α = 0.24). Both daytime sleepiness and fatigue rating scales showed significant test retest reliability. Test retest reliability for individual items revealed inconsistencies for some ESS and CFS items. Conclusions: Reliability of the CFS, DSS, and KFSS was high, allowing their use for individual patients with DM1, but that of the ESS was lower, rendering its current usage in DM1 questionable. Fatigue rating scales such as the KFSS, which are based on the behavioural consequences of fatigue, may constitute a more accurate and comprehensive measure of fatigue severity in the DM1 population.

Predictors of Disrupted Social Participation in Myotonic Dystrophy Type 1

OBJECTIVE To identify personal and environmental predictors of the most disrupted participation domains in people with myotonic dystrophy type 1 (DM1). DESIGN Cross-sectional study. SETTING Outpatient neuromuscular clinic. PARTICIPANTS Adults (n=200; 121 women), age 18 years or older (mean age, 47 y), with a confirmed diagnosis of DM1 were selected from the registry of a neuromuscular clinic (N=416). Fifty-two participants had the mild phenotype and 148 the adult phenotype. INTERVENTIONS Not applicable. MAIN OUTCOME MEASURES Social participation in mobility, housing, employment, and recreation was assessed with the Life Habits Measure. Disrupted participation was based on whether help was needed in performing most life habits because of incapacities or environmental barriers. Environmental factors were assessed by using the Measure of the Quality of the Environment. Personal factors were assessed with standardized instruments including the Berg Balance Scale, the Krupp Fatigue Severity Scale, and manual muscle testing. RESULTS A large proportion of participants (45%-61%) reported disrupted participation in all 4 domains. Lower-extremity strength (odd ratios [OR], 15.0-5.5; P<.050) and higher fatigue (OR, 6.0-2.6; P<.05) were present in participants with disrupted participation. With regard to environmental factors, family support (OR, 3.6-2.5; P<.05) and public services (OR, 2.8-2.2; P<.05) were perceived as barriers for participants with disrupted participation in most domains. CONCLUSIONS This study identified personal and environmental factors that may influence the trajectory toward disrupted participation in individuals with DM1. Fatigue, strength, family support, and public services were found to be independent predictors of disrupted participation.

Towards an integrative approach to the management of myotonic dystrophy type 1

Myotonic dystrophy type 1 (DM1) is the most common type of muscular dystrophy in adults. Approximately 60% of individuals report either having difficulty performing or being unable to carry out some activities related to home management, mobility and transportation, work and leisure. Employment, educational level and income are, on average, lower than in the general population. The complexity and variability of disease manifestations in DM1 undoubtedly pose a challenge as regards anticipating all potential problems and developing a plan for health and community management. This article presents a conceptual model for DM1 management as well as a brief discussion of an approach for developing interdisciplinary health and community services. Myotonic dystrophy type 1 (DM1, OMIM 160900) is the most common type of muscular dystrophy in adults. Its estimated prevalence ranges between 2.1 and 14.3 per 100 000 worldwide, but reaches 189 per 100 000 in the Saguenay–Lac-St-Jean region of the province of Quebec, Canada.1,2 DM1 is an autosomal dominant disease caused by an unstable trinucleotide repeat expansion of the cytosine–thymine–guanine [CTG]n located in the 3′ untranslated region of chromosome 19q13.3.3 DM1 was first described as a muscle disease with gonadal involvement in 1909. Since then, it has been recognised as a multisystemic disorder with various impairments, especially in the muscular, respiratory, cardiac, central nervous, endocrine and ocular systems.4 Typical symptoms of the disease include progressive loss of muscle strength, usually distal to proximal, ptosis, weakness of facial and anterior neck muscles, myotonia, daytime somnolence and cataracts.4 DM1 may also affect the ability of patients to carry out certain daily activities and social roles. Approximately 60% of individuals report either having difficulty performing or being unable to carry out some activities related to home management, mobility and transportation, work and leisure.5 Employment, educational level and …

Daytime Sleepiness and Myotonic Dystrophy

Myotonic dystrophy type 1 (DM1) represents the 1 chronic neuromuscular disease with the most prominent sleep disorders, including excessive daytime sleepiness (EDS), sleep apneas, periodic leg movements during sleep, and rapid eye movement sleep dysregulation. The large majority of DM1 patients complain about EDS, which may have a deleterious impact on work, domestic responsibilities, social life, and quality of life. Here, we review the extant literature and report that studies are largely supportive of the view that DM1-related EDS is primarily caused by a central dysfunction of sleep regulation rather than by sleep-related disordered breathing (SRDB) or sleep fragmentation. The pathogenesis of EDS in DM1 still remains unclear but several arguments favor a model in which brain/brainstem nuclear accumulations of toxic expanded DM protein kinase (DMPK) gene are responsible for aberrant genes expression in modifying alternative splicing. Regarding management, early recognition, and treatment of SRDB with nocturnal noninvasive mechanical ventilation is first mandatory. However, despite its appropriate management, EDS often persists and may require a psychostimulant but no consensus has been yet established. Further studies are needed to clarify the discrepancies between daytime sleepiness/fatigue complaints and subjective/objective measurement of daytime sleepiness, the role of cognitive impairment and apathy in this relationship, and its reversibility with appropriate management.

Life habits in myotonic dystrophy type 1.

OBJECTIVE To describe and compare life habits between individuals with adult and mild phenotypes of myotonic dystrophy; identify life habit dimensions in which accomplishment is compromised; and describe satisfaction related to life habits. DESIGN Cross-sectional study. SUBJECTS A random sample of 200 subjects with myotonic dystrophy (42 mild phenotypes, 158 adult phenotypes). MEASUREMENT The Assessment of Life Habits (LIFE-H), a questionnaire assessing self-perceived life habits (activities and participation as described in the International Classification of Functioning, Disability and Health (ICF)). RESULTS Participants with the adult phenotype demonstrated significantly lower participation levels than those with the mild phenotype on 8 out of the 11 categories of the LIFE-H. Lower levels of accomplishment were reported in Mobility, Housing, Fitness, Nutrition, Personal Care, Employment, Recreation, and Community Life categories among the adult phenotype. The Recreation category was the most affected, with 4 out of 7 items revealing compromised accomplishment among 22-27% of individuals. The lowest satisfaction score was observed in the Employment and Recreation categories. In all categories, individuals with the adult phenotype displayed significantly lower satisfaction levels than those with the mild phenotype. CONCLUSION This study helped to establish a clearer distinction between activities and participation levels of individuals with the mild phenotype and those with the adult phenotype and supported tailored rehabilitation and community services to improve accomplishment of life habits.

Report of the first Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-1) international workshop: Clearwater, Florida, November 30, 2011

Groupe de recherche interdisciplinaire en maladies neuromusculaires (GRIMN), Centre de sante et de services sociaux de Jonquiere, Quebec, Canada Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Quebec, Canada Department of Neurology, University of Milan, IRCCS Policlinico San Donato, Italy Human Genetics Unit, Centre hospitalier de l’Universite Laval, Quebec, Canada e ECOBES, Cegep de Jonquiere, Quebec, Canada Centre hospitalier universitaire de Chicoutimi, Chicoutimi, Quebec, Canada Department of Health Sciences, Universite du Quebec a Chicoutimi, Quebec, Canada Faculty of Medicine, Universite Laval, Quebec, Canada Canadian Forces Health Services HQ, Directorate of Medical Policy, Quebec, Canada

Clinical, Psychosocial, and Central Correlates of Quality of Life in Myotonic Dystrophy Type 1 Patients

Aims: To identify sociodemographic, clinical, and central correlates of health-related quality of life (HRQoL) in DM1 patients. Methods: 200 DM1 patients had assessments of muscular impairment, CTG repeats, and intelligence. Validated instruments were used to assess sociodemographic and clinical factors as well as social support, social participation, daytime sleepiness, fatigue, personality, mood, and quality of life. Regression analysis was used to identify correlates of SF-36 physical and mental component summary scores. Results: Patients scored lower on all SF-36 physical health subscales compared with normative data but did not differ with respect to mental health function. Regression analysis revealed that psychological distress, fatigue, severe muscular impairment, emotional stability, not having worked within the last 12 months, and lower intellectual quotient were associated with lower scores in physical health function. Moreover, neuroticism, daytime sleepiness, dissatisfaction with social participation, and lower conscientiousness were associated with lower scores in mental health function. Conclusion: DM1 has an impact on SF-36 physical summary scores but not on mental summary scores. Factors such as fatigue, daytime sleepiness, psychological distress, unemployment, and social participation dissatisfaction that significantly affect HRQoL in DM1 are amenable to treatment and psychosocial interventions, namely by providing care that integrate health, social, and community services.

Evaluating the integration of chronic disease prevention and management services into primary health care

BackgroundThe increasing number of patients with chronic diseases represents a challenge for health care systems. The Chronic Care Model suggests a multi-component remodelling of chronic disease services to improve patient outcomes. To meet the complex and ongoing needs of patients, chronic disease prevention and management (CDPM) has been advocated as a key feature of primary care producing better outcomes, greater effectiveness and improved access to services compared to other sectors. The objective of this study is to evaluate the adaptation and implementation of an intervention involving the integration of chronic disease prevention and management (CDPM) services into primary health care.Methods/DesignThe implementation of the intervention will be evaluated using descriptive qualitative methods to collect data from various stakeholders (decision-makers, primary care professionals, CDPM professionals and patients) before, during and after the implementation. The evaluation of the effects will be based on a combination of experimental designs: a randomized trial using a delayed intervention arm (n = 326), a before-and-after design with repeated measures (n = 163), and a quasi-experimental design using a comparative cohort (n = 326). This evaluation will utilize self-report questionnaires measuring self-efficacy, empowerment, comorbidity, health behaviour, functional health status, quality of life, psychological well-being, patient characteristics and co-interventions. The study will take place in eight primary care practices of the Saguenay region of Quebec (Canada). To be included, patients will have to be referred by their primary care provider and present at least one of the following conditions (or their risk factors): diabetes, cardiovascular diseases, chronic obstructive pulmonary disease, asthma. Patients presenting serious cognitive problems will be excluded.DiscussionIn the short-term, improved patient self-efficacy and empowerment are expected. In the mid-term, we expect to observe an improvement in health behaviour, functional health status, quality of life and psychological well-being. At the organizational level, the project should lead to coordinated service delivery, improved patient follow-up mechanisms and enhanced interprofessional collaboration. Integration of CDPM services at the point of care in primary care practices is a promising innovation in care delivery that needs to be thoroughly evaluated.Trial registrationClinicalTrials.gov Identifier: NCT01319656

Prevalence of lifestyle risk factors in myotonic dystrophy type 1.

BACKGROUND The prevalence of unhealthy lifestyle habits such as smoking has seldom been described in neuromuscular disorders, including myotonic dystrophy type 1 (DM1). However, it is essential to document the unhealthy lifestyle habits as they can exacerbate existing impairments and disabilities. The objectives are: 1) To determine the prevalence of risk factors among individuals with DM1; 2) To compare the prevalence among classic and mild phenotypes. METHOD A survey was done on a sample of two-hundred (200) patients with DM1 as part of a larger study. Lifestyle risk factors included being overweight or obese, tobacco smoking, illicit drug use, excessive alcohol consumption and physical inactivity. A registered nurse administered the validated public health survey. Categorization of risk factors were based on national standards and compared with provincial and regional prevalences. RESULTS 50% of DM1 patients were overweight or obese, 23.6% were regular smokers, and 76% were physically inactive. Except for overweight and obesity, significant differences were observed between patients with classic and mild phenotypes for all the other lifestyle risk factors: those with the classic phenotype being more often regular smokers, consuming more often illicit drugs and being less physically active. CONCLUSIONS The results of this study will provide guidance for the development of better adapted and focussed health promotion interventions in the future.

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013

Report of the second Outcome Measures in Myotonic Dystrophy type 1 (OMMYD-2) international workshop San Sebastian, Spain, October 16, 2013 Cynthia Gagnon *, Giovanni Meola , Luc J. Hebert , Luc Laberge , Mario Leone , Chad Heatwole i a Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre de Sante et de Services Sociaux de Jonquiere, Jonquiere, Quebec, Canada b Faculty of Medicine and Health Sciences, Universite de Sherbrooke, Sherbrooke, Quebec, Canada c Department of Neurology, IRCCS Policlinico San Donato, University of Milan, Milan, Italy d Faculty of Medicine, Universite Laval, Laval, Quebec, Canada e Centre for Interdisciplinary Research in Rehabilitation and Social Integration (CIRRIS), Quebec, Quebec, Canada f ECOBES, Cegep de Jonquiere, Jonquiere, Quebec, Canada g Centre Hospitalier Universitaire de Chicoutimi, Chicoutimi, Quebec, Canada h Department of Health Sciences, Universite du Quebec a Chicoutimi, Chicoutimi, Quebec, Canada i Department of Neurology, The University of Rochester Medical Center, Rochester, NY, USA Received 19 December 2014